E111K (p.Glu111Lys) variant of PYGM (P11217)
E111K (p.Glu111Lys) in PYGM (P11217) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E111K (p.Glu111Lys) variant details
- p.Glu111Lys
- rs779392056
- ClinGen CA6080308
- NCI-TCGA Cosmic COSV9937
- ClinVar RCV001767769
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.71
- MetaSVM 0.49
- CADD 23.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available